Clinical Trials on Optic Atrophy, Autosomal Dominant

Total 239 results

Shire

Terminated

Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)

Retinitis Pigmentosa

United States
Sanford Health
National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators

Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions

United States, Australia
Reata, a wholly owned subsidiary of Biogen

Completed

A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX (PHOENIX)

Focal Segmental Glomerulosclerosis | IgA Nephropathy | Autosomal Dominant Polycystic Kidney | CKD Associated With Type 1 Diabetes

United States
GenSight Biologics

Completed

Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE) (REVERSE)

Optic, Atrophy, Hereditary, Leber

United Kingdom, United States, Germany, Italy, France
The Foundation for Orthopaedics and Regenerative...

Recruiting

Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for Eye Diseases

Glaucoma | Eye Diseases | Macular Degeneration | Diabetic Retinopathy | Retinitis Pigmentosa | Optic Atrophy | Traumatic Optic Neuropathy

Antigua and Barbuda, Argentina, Mexico
State University of New York at Buffalo
Hadley Jo Foundation

Completed

Natural History Study of SLC25A46 Mutation-related Mitochondriopathy

Mitochondrial Diseases | Optic Atrophy | Neurodegenerative Disease, Hereditary

United States
State University of New York at Buffalo
The Callum McKeefery and Nikki Albano McKeefery Pediatric Division of Genetics...

Completed

Natural History Study of FDXR Mutation-related Mitochondriopathy

Mitochondrial Diseases | Optic Atrophy | Neurodegenerative Disease, Hereditary

United States
GenSight Biologics

Completed

Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation (RESCUE)

Optic, Atrophy, Hereditary, Leber

United Kingdom, United States, France, Germany, Italy
Indiana University

Completed

Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.

Autosomal Dominant Hypophosphatemic Rickets

United States
University of Wisconsin, Madison

Recruiting

Registry for CADASIL

Cerebral Autosomal Dominant Ateriopathy With Subcortical Infarcts and Leukoencephalopathy

United States
Bin Li

Unknown

Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months (LHON)

Acute LHON | Onset Within Three Months | Onset Between 3 to 6 Months | Onset Between 6 to 12 Months | Onset Between 12 to 24 Months | Onset Between 24 to 60 Months | Onset Over 60 Months

China
Mayo Clinic

Recruiting

Retina is a Marker for Cerebrovascular Heath

Cerebral Small Vessel Diseases | Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy | Cerebral Microbleeding | Sporadic White Matter Disease

United States
Assistance Publique - Hôpitaux de Paris
Institute of Cardiometabolism and Nutrition, France

Completed

Study of Coronary Calcification in Subjects With Autosomal Dominant Familial Hypercholesterolemia Heterozygous (FH-CALC)

Familial Hypercholesterolemia - Heterozygous

France
Palladio Biosciences
Centessa Pharmaceuticals plc

Terminated

Roll-over Study to Assess Safety of Lixivaptan in Participants With ADPKD Who Completed Study PA-ADPKD-303

Polycystic Kidney Disease, Adult

United States
Washington University School of Medicine
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National...

Completed

A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome

Diabetes Mellitus | Ataxia | Wolfram Syndrome | Optic Nerve Atrophy

United States
Radboud University Medical Center
Ipsen

Unknown

Open-Label Extension of LOCKCYST Trial (LOCKCYST-ext)

Liver Diseases | Hepatomegaly | Polycystic Liver Disease | Polycystic Kidney | Autosomal Dominant

Netherlands, Belgium
Washington University School of Medicine
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaborators

Recruiting

Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study

Diabetes Mellitus | Deafness | Ataxia | Diabetes Insipidus | Wolfram Syndrome | Optic Nerve Atrophy

United States
Odense University Hospital

Unknown

Renal Sympathetic Denervation for Reduction of Pain and Improvement of Insulin Sensitivity in Adult Polycystic Kidney Disease

Adult Polycystic Kidney Disease

Denmark
Institut National de la Santé Et de la Recherche...
Assistance Publique - Hôpitaux de Paris

Completed

Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations

Spinocerebellar Ataxias | Spastic Paraplegias

France
Thomas Mueller

Unknown

Dynamic Measurement of Renal Functional Reserve as a Predictor of Long-Term Renal Function

Kidney Neoplasms | Adult Polycystic Kidney Disease | Kidney Dysfunction

Switzerland
China Medical University Hospital

Unknown

Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma

Lung Adenocarcinoma

Taiwan
National Taiwan University Hospital

Recruiting

Taiwan Associated Genetic and Nongenetic Small Vessel Disease (TAG-SVD)

Stroke | Magnetic Resonance Imaging | Fabry Disease | Cerebral Small Vessel Diseases | Cadasil | HTRA1-Related Autosomal Dominant Cerebral Angiopathy | COL4A1-Related Brain Small Vessel Disease With Haemorrhage | Next-generation Sequencing

Taiwan
Dr. Rebecca Schule
German Research Foundation; German Center for Neurodegenerative Diseases (DZNE)

Recruiting

Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias (SPAX-PBP)

Spastic Ataxia

Canada, France, Germany, Italy, Netherlands, Turkey, United Kingdom
University of Wisconsin, Madison
National Institute on Aging (NIA)

Recruiting

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study

CADASIL

United States
Hadassah Medical Organization

Withdrawn

GLP Analogs for Diabetes in Wolfram Syndrome Patients

Wolfram Syndrome | Diabetes Mellitus Associated With Genetic Syndrome
Washington University School of Medicine
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Completed

Tracking Neurodegeneration in Early Wolfram Syndrome (TRACK)

Diabetes Mellitus | Type 1 Diabetes | Diabetes Insipidus | Wolfram Syndrome

United States
UK Kidney Association

Recruiting

National Registry of Rare Kidney Diseases (RaDaR)

Vasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditions

United Kingdom
University of Birmingham

Active, not recruiting

Efficacy and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome

Wolfram Syndrome

France, United Kingdom, Poland, Spain
Centre d'Etude des Cellules Souches
Genethon

Recruiting

Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome (AUDIOWOLF)

Wolfram Syndrome

France, Spain
Amylyx Pharmaceuticals Inc.

Active, not recruiting

AMX0035 in Adult Patients With Wolfram Syndrome

Wolfram Syndrome

United States
Ospedale San Raffaele

Recruiting

Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1

Wolfram Syndrome

Italy
Washington University School of Medicine

Enrolling by invitation

I-Tracking Neurodegeneration in Early Wolfram Syndrome (I-TRACK)

Wolfram Syndrome

United States
Hadassah Medical Organization

Unknown

Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy

Diabetes Mellitus | Iron Metabolism Disorders | Optic Atrophy | Sensorineural Hearing Loss | Platelet Dysfunction | Gastroduodenal Ulcer

Israel
McGill University Health Centre/Research Institute...

Recruiting

Monogenic Diabetes Misdiagnosed as Type 1 (ADDAM)

Diabetes Mellitus, Type 1 | Wolfram Syndrome | Neonatal Diabetes | Monogenic Diabetes | Maturity-onset Diabetes in the Young (MODY) | Wolcott-Rallison Syndrome | Mitochondrial Diabetes

Canada
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders (DANNIgene)

Hemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditions

France
Visionary Intelligence Ltd.
Peking University First Hospital; Beijing Municipal Science & Technology Commission

Completed

Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph

Diabetic Retinopathy | Retinal Vein Occlusion | Retinitis Pigmentosa | Optic Atrophy | Retinal Detachment | Epiretinal Membrane | Macular Holes | Central Serous Chorioretinopathy | Retinal Artery Occlusion | Suspect Glaucoma | Pathologic Myopia | Nonexudative Age-related Macular Degeneration | Exudative Age Related...

China
Institut National de la Santé Et de la Recherche...

Recruiting

Modifying Factors in Striated Muscle Laminopathies (LMNAModifier)

Laminopathies | Emery Dreifuss Muscular Dystrophy 2 | LMNA-Related Congenital Muscular Dystrophy | Dilated Cardiomyopathy-1A

France
RTI International
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

Early Check: Expanded Screening in Newborns

Primary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditions

United States
Cure CMD

Recruiting

Congenital Muscle Disease Study of Patient and Family Reported Medical Information (CMDPROS)

Emery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditions

United States

Clinical Trials on Optic Atrophy, Autosomal Dominant

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Equatorial Guinea

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations